Canonical Allele Identifier: CA1603608528

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403799T= , CM000667.2:g.177403799T=	GRCh38
NC_000005.9:g.176830800T= , CM000667.1:g.176830800T=	GRCh37
NC_000005.8:g.176763406T=	NCBI36
NG_007568.1:g.10778A= , LRG_145:g.10778A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*916+60A= (F12)	ENSP00000512476.1:n.*916+60A=
ENST00000696193.1:c.*1637+60A= (F12)	ENSP00000512477.1:n.*1637+60A=
ENST00000696194.1:c.*840+60A= (F12)	ENSP00000512478.1:n.*840+60A=
ENST00000696195.1:n.4053+60A= (F12)
ENST00000696200.1:n.1413A= (F12)
ENST00000696201.1:c.1250+60A= (F12)	ENSP00000512482.1:n.1250+60A=
ENST00000253496.4:c.1250+60A= (F12) MANE Select	ENSP00000253496.3:n.1250+60A=
ENST00000253496.3:c.1250+60A= (F12)	ENSP00000253496.3:n.1250+60A=
ENST00000502598.5:c.-45+273T= (GRK6)	ENSP00000422873.1:n.-45+273T=
ENST00000502854.5:n.569A= (F12)
ENST00000503736.1:n.622+60A= (F12)
ENST00000510358.5:n.674A= (F12)
NM_000505.3:c.1250+60A= , LRG_145t1:c.1250+60A= (F12)	NP_000496.2:n.1250+60A=
XM_011534461.1:c.1250+60A= (F12)	XP_011532763.1:n.1250+60A=
XM_011534462.1:c.914+60A= (F12)	XP_011532764.1:n.914+60A=
XM_011534462.2:c.914+60A= (F12)	XP_011532764.1:n.914+60A=
XM_017009773.2:c.1416+6725T= (SLC34A1)	XP_016865262.1:n.1416+6725T=
NM_000505.4:c.1250+60A= (F12) MANE Select	NP_000496.2:n.1250+60A=